Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA3
Variant:p.L858S

CTNNA3

269 papers

RefSeq Summary

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhyt...

Pfam Domains

Vinculinaa 17–856UCSCVinculin family

Gene Aliases

HGNC Name

catenin alpha 3

HGNC Alias Symbols

VR22; MGC26194

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013266.4
p.L858S
c.2573T>C
Surrounding Variants
1 paper
NM_013266.4
p.I859L
c.2575A>C
1 paper
NM_013266.4
p.A854delFs
c.2562delT
2 papers
NM_013266.4
p.A852S
c.2554G>T
1 paper
NM_013266.4
p.E865G
c.2594A>G
1 paper
NM_013266.4
p.M850I
c.2550G>T
1 paper
NM_013266.4
p.M850I
c.2550G>C
1 paper
NM_013266.4
p.M850I
c.2550G>A
1 paper
NM_013266.4
p.P844A
c.2530C>G
1 paper
NM_013266.4
p.R873*
c.2617C>T
1 paper
NM_013266.4
p.R842Q
c.2525G>A
1 paper
NM_013266.4
p.R842W
c.2524C>T
1 paper
NM_013266.4
p.P841L
c.2522C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."